Paeds - Endocrine, Oncology, Neonatal Flashcards
(154 cards)
what is congenital hypothyroidism?
child is born with an underactive thyroid gland. This occurs in around 1 in 3000 newborns.
what two ways does congenital hypothyroidsm occur
dysgenesis - thyroid gland is underdeveloped
dyshormonogenesis - fully developed gland that does not produce enough hormone
how is congenital hypothyroidism picked up
newborn blood spot screening test
what is the presentation of congenital hypothyroidsm (6)
-poor feeding
-constipation
-increased sleeping
-reduced activity
-slow growth and development
-prolonged neonatal jaundice
what is hashimotos thyroiditis
an acquired autoimmune hypothyroidism leading to inflammation of the thyroid gland
what antibodies is hashimotos thyroiditis associated with (2)
-antithyroid peroxidase (anti-TPO)
-antithyroglobulin antibodies
Sx of hashimotos thyroditis
-Fatigue and low energy
-Poor growth
-Weight gain
-Poor school performance
-Constipation
-Dry skin and hair loss
Ix of hypothyroidism (3)
thyroid function blood tests (TSH, T3 and T4), thyroid ultrasound
thyroid antibodies
Mx of hypothyroidism
Levothyroxine once daily
risk factors for undescended testes (5)
Family history of undescended testes
Low birth weight
Small for gestational age
Prematurity
Maternal smoking during pregnancy
What is cryptorchidism
A congenital condition where the testis fail to reach the bottom of the scrotum by 3 months of age
Complications of cryptorchidism
-risk of infertility
-increased risk of testicular seminoma (cancer)
-testicular torsion
Tx of cryptorchidism (3)
Orchidopexy at 6- 18 months of age - mobilisation of testis into dartos pouch ( bottom of scrotum)
Intra-abdominal testis - evaluated laparoscopically and mobilised.
Past 2 years
Orchidectomy as decreased risk of malignancy
What is retractile testicles
Before puberty the testes move out the scrotum into the inguinal canal due to cremasteric reflex
Sometimes do not come back down and need orchidopexy
what is hypogonadotropic Hypogonadism
deficiency in LH and FSH (gonadotrophins)
leading to a deficiency in oestrogen and testosterone
what is the root cause of hypogonadotrophic hypogonadism
abnormal functioning of pituitary gland
give 5 causes of hypogonadotropic Hypogonadism
-damage to hypothalamus or pituitary
-tumours - astrocytomas, craniopharygiomas, prolactinomas
-GH deficiency
-Hypothyroidism
-Hyperprolactinameia (high prolactin)
-CF - delay puberty
-IBD - delay puberty
-kallmans syndrome
-excessive exercise or dieting -delays menstruation in girls
-bulimia
what is kallmans syndrome
-genetic condition resultig in the failure to start puberty and an impairment in smell
what is kallmans syndrome associated with
anosmia - absent smell
investigations for delay in puberty
categories
1. initial (3)
2. hormonal blood tests (4)
3.genetic tests (2)
4 imaging (3)
initial
-FBC + ferritin for anaemia
-U+E - for CKD
-Anti TTG/ anti EMA - coeliac
hormonal blood tests
-early morning LH + FSH - low in hypogonadotropic Hypogonadism
-TFTs
-GH tests - insulin like growth factor
-serum prolactin
Genetic testing
-kleinfelters
-turners
(can both cause delayed puberty
Imaging
-xray of the wrist to assess bone age
-pelvic ultrasound - assess ovaries
-MRI of the brain - pituitary pathology + assess olfactory bulbs (kallmans syndrome)
what is HYPERgonadotropic hypogonadism
- gonads dont respond to stimulation from the gonadotrophins (LH and FSH)
- There is no negative feedback from the sex hormones (testosterone and oestrogen),
-so anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads
what are the potential causes of hypergonadtropic hypogoandism
is due to abnormal functioning gonads
genetic:
-kleinfelters
-turners syndrome
-congenital abscence of the ovaries or testes
-previous damage to the gonads e.g testicular torsion
Management for a delay in puberty
-treat the underlying condition e.g GH deficiency
-replacement of sex hormones to induce puberty
what inheritance pattern is kallmanns syndrome
x linked recessive